Abstract

About a week ago we featured a regulatory expert on the program explaining why the FDA's letter telling 23andMe to stop selling their PGS test is a good thing. Today we feature an outspoken fan of the DTC company, Gholson Lyon, medical geneticist at Cold Spring Harbor Laboratory.
Gholson is himself a happy customer of 23andMe, and says he's found the service invaluable. In 2011, Gholson led a team in the identification of a new rare genetic disease, Ogden Syndrome, which caused the death of a four month old Utah boy. At the time, Gholson did genetic tests on the boy's family, but was unable to return their results because the tests were not done in a CLIA laboratory. This led Gholson to become an advocate for doing genetic tests for research in a CLIA facility so that results might be returned to patients. Since the 23andMe service is done in a CLIA approved lab, Gholson found the company an excellent place to do genome wide testing.
But is CLIA regulation--which guarantees analytic validity--good enough for the kind of disease risk reports put out by 23andMe to their more than 500,000 customers? Gholson says yes. And regulating the tests further will cut out an important part of a new revolution in medicine.
Gholson acknowledges the diagnostics industry is attempting to bring up the quality of genetic tests, but says that industry companies are producing one-off tests done without the broader context of the genome. This is why he likes the 23andMe service.
"If you don't sequence or genotype the rest of there person's genome, then you have no knowledge about their ancestry and what population they come from. And so you really cannot predict the expression of a particular mutation in that person," he says in the interview.
Gholson also points out that by being a DTC company, 23andMe has been able to recruit many many more participants and data sets than a non-profit, such as the Personal Genome Project, of which he's also a member.
Just how far does Gholson go in his stance against regulation? And how does he envision this revolution in medicine?